Function
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity.
Biological Context
Subcellular Location: Endoplasmic reticulum membrane (Multi-pass membrane protein); Golgi apparatus, Golgi stack membrane (Multi-pass membrane protein); Cell membrane (Multi-pass membrane protein); Membrane (Multi-pass membrane protein)
Tissue Specificity: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain
Disease Association: Acne inversa, familial, 2, with or without Dowling-Degos disease (ACNINV2) : An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Gamma-secretase subunit PEN-2 (PSENEN) Protein is a recombinant protein from Homo sapiens (Human), expressed in in vitro E.coli expression system, covering amino acids 1-101aa, with N-terminal 10xHis-tagged tag, molecular weight 14.8kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
